Translational advances regarding hereditary breast cancer syndromes

Journal of Surgical Oncology

Volumn 105, Issue 5, 2012, Pages 444-451

  Gage, M ^a   Wattendorf, D ^a   Henry, L R ^b  

^a WALTER REED ARMY MEDICAL CENTER   (United States)

^b INDIANA UNIVERSITY HEALTH   (United States)

Author keywords

breast cancer; familial breast cancer; hereditary breast cancer

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; BRIP1 PROTEIN; CHECKPOINT KINASE 2; ONCOPROTEIN; PALB2 PROTEIN; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE LKB1; PROTEIN P53; UNCLASSIFIED DRUG;

ATAXIA TELANGIECTASIA; BREAST CANCER; BREAST EXAMINATION; CANCER GENETICS; CANCER PREVENTION; CANCER RISK; CELL CYCLE ARREST; CELL CYCLE PROGRESSION; CHROMOSOME 10Q; CHROMOSOME 13Q; CHROMOSOME 17; CHROMOSOME 17P; CHROMOSOME 19P; COWDEN SYNDROME; DIAGNOSTIC ACCURACY; FAMILIAL CANCER; FAMILY HISTORY; FANCONI ANEMIA; GENE FREQUENCY; GENE LOSS; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HUMAN; MAMMOGRAPHY; MASTECTOMY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONCOGENE; OVARIECTOMY; PEUTZ JEGHERS SYNDROME; PRIORITY JOURNAL; REVIEW; RISK REDUCTION; SEQUENCE ANALYSIS; TUMOR GROWTH; TUMOR SUPPRESSOR GENE;

ATAXIA TELANGIECTASIA; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; CELL CYCLE PROTEINS; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HAMARTOMA SYNDROME, MULTIPLE; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HUMANS; LI-FRAUMENI SYNDROME; MUTATION; NEOPLASTIC SYNDROMES, HEREDITARY; NUCLEAR PROTEINS; PEUTZ-JEGHERS SYNDROME; PROTEIN-SERINE-THREONINE KINASES; PTEN PHOSPHOHYDROLASE; RNA HELICASES; TRANSLATIONAL MEDICAL RESEARCH; TUMOR SUPPRESSOR PROTEIN P53; TUMOR SUPPRESSOR PROTEINS;

EID: 84859054755     PISSN: 00224790     EISSN: 10969098     Source Type: Journal    
DOI: 10.1002/jso.21856     Document Type: Review

References (92)

1. Altekruse SF, Kosary CL, Krapcho M, et al.: SEER Cancer Statistics Review, 1975-2007, National Cancer Institute. Bethesda, MD, based on November 2009 SEER data submission, posted to the SEER web site, 2010.
2. Jemal A, Siegel R, Ward E, et al.: Cancer statistics, 2009. CA: Cancer J Clin 2009; 59: 225.
3. Carroll JC, Cremin C, Allanson J, et al.: Hereditary breast and ovarian cancers. Can Fam Physician 2008; 54: 1691-1692.
4. Khatcheressian JL, Wolff AC, Smith TJ, et al.: American Society of Clinical Oncology 2006 update of the breast cancer follow-up and management guidelines in the adjuvant setting. J Oncol Pract 2006; 2: 317.
5. U.S. Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Recommendation statement. Ann Intern Med 2005; 143: 355-361.
6. Frank TS, Deffenbaugh AM, Reid JE, et al.: Clinical characteristics of individuals with germline mutations in BRCA1 and BRC A2: Analysis of 10,000 individuals. J Clin Oncol 2002; 20: 1480-1490. (Pubitemid 34260526)
7. Nanda R, Schumm LP, Cummings S, et al.: Genetic testing in an ethnically diverse cohort of high-risk women: A comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA 2005; 294: 1925-1933. (Pubitemid 41464694)
8. Ford D, Easton DF, Stratton M, et al.: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998; 62: 676-689. (Pubitemid 28164626)
9. Stratton MR, Rahman N,: The emerging landscape of breast cancer susceptibility. Nat Genet 2008; 40: 17-22.
10. Foulkes W,: Molecular origins of cancer: Inherited susceptibilities to common cancers. N Engl J Med 1998; 62: 676-689.
11. Narod SA, Foulkes WD,: BRCA1 and BRC A2: 1994 and beyond. Nat Rev Cancer 2004; 4: 665-676.
12. Thorslund T, West SC,: BRC A2: A universal recombinase regulator. Oncogene 2007; 26: 7720-7730.
13. Chen S, Parmigiani G,: Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007; 25: 1329-1333. (Pubitemid 46706879)
14. Allain DC,: Genetic counseling and testing for common hereditary breast cancer syndromes: A paper from the 2007 William Beaumont hospital symposium on molecular pathology. J Mol Diagn 2008; 10: 383-395.
15. Antoniou A, Pharouh PD, Narod S, et al.: Average risks of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet 2003; 72: 1117-1130. (Pubitemid 36530000)
16. Ford D, Easton DF, Bishop DT, et al.: Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994; 343: 692-695. (Pubitemid 24087847)
17. King MC, Marks JH, Mandell JB,: Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003; 302: 643-646. (Pubitemid 37310920)
18. Claus EB, Schildkraut JM, Thompson WD, et al.: The genetic attributable risk of breast and ovarian cancer. Cancer 1996; 77: 2318.
19. Lakhani S, Easton D, Stratton M,: Pathology of familial breast cancer: Differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium. Lancet 1997; 349: 1505-1510. (Pubitemid 27216361)
20. Bane AL, Beck JC, Bleiweiss I, et al.: BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays. Am J Surg Pathol 2007; 31: 121-128. (Pubitemid 46036911)
21. Parmigiani G, Chen S, Iversen ES, Jr., et al.: Validity of models for predicting BRCA1 and BRCA2 mutations. Ann Intern Med 2007; 147: 441-450. (Pubitemid 351664516)
22. Frank TS, Manley SA, Olopade OI, et al.: Sequence analysis of BRCA1 and BRC A2: Correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 1998; 16: 2417-2425. (Pubitemid 28309036)
23. Unger MA, Nathanson KL, Calzone K, et al.: Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet 2000; 67: 841-850.
24. Walsh T, Casadei S, Coats KH, et al.: Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006; 295: 1379-1388.
25. King MC, Wieand S, Hale K, et al.: Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRC A2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. National Surgical Adjuvant Breast and Bowel Project. JAMA 2001; 286: 2251-2256. (Pubitemid 33063147)
26. Hartmann LC, Schaid DJ, Woods JE, et al.: Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 1999; 340: 77-84. (Pubitemid 29054841)
27. Meijers-Heijboer H, van Geel B, van Putten WL, et al.: Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2001; 345: 159-164. (Pubitemid 32662123)
28. Kauff ND, Domchek SM, Friebel TM, et al.: Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: A multicenter, prospective study. J Clin Oncol 2008; 26: 1331-1337.
29. Gonzalez K, Noltner K, Buzin C, et al.: Beyond Li-Fraumeni syndrome: Clinical characteristics of families with p53 germline mutations. J Clin Oncol 2009; 27: 1250-1256.
30. Lustbader ED, Williams WR, et al.: Segregation analysis of cancer in families of childhood soft tissue sarcoma patients. Am J Hum Genet 1992; 51: 344-356.
31. Gonzalez K, Buzin CH, Noltner KA, et al.: High frequency of de novo mutations in Li-Fraumeni syndrome. J Med Genet 2009; 46: 689-693.
32. Li FP, Fraumeni JF, Mulvihill JJ, et al.: A cancer family syndrome in twenty-four kindreds. Cancer Res 1988; 48: 5358-5362.
33. Birch JM, Hartley AL, Tricker K, et al.: Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 1994; 54: 1298-1304. (Pubitemid 24108072)
34. Varley JM,: Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 2003; 21: 313-320. (Pubitemid 36292974)
35. Birch JM, Blair V, Kelsey AM, et al.: Cancer phenotype correlates with constitutional TP53 genotype in families with Li-Fraumeni syndrome. Oncogene 1998; 17: 1061-1068. (Pubitemid 28444590)
36. Kleihues P, Schauble B, zur Hausen A, et al.: Tumors associated with p53 germline mutations: A synopsis of 91 families. Am J Pathol 1997; 150: 1-13. (Pubitemid 27027090)
37. Hisada M, Garber JE, Fung CY, et al.: Multiple primary cancers in families with Li-Fraumeni Syndrome. J Natl Cancer Inst 1998; 90: 606.
38. Lalloo F, Varley J, Moran A, et al.: BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. Eur J Cancer 2006; 42: 1143-1150.
39. Olivier M, Goldgar DE, Sodha N, et al.: Li-Fraumeni and related syndromes: Correlation between tumor type, family structure, and TP53 genotype. Cancer Res 2003; 63: 6643-6650. (Pubitemid 37322942)
40. Birch JM, Alston RD, McNally RJ, et al.: Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 2001; 20: 4621-4628. (Pubitemid 32762434)
41. Chompret A, Brugieres L, Ronsin M, et al.: P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 2000; 82: 1932-1937. (Pubitemid 30326453)
42. Le Bihan C, Bonaiti-Pellie C,: A method or estimating cancer risk in p53 mutation carriers. Cancer Detect Prev 1994; 18: 171-178. (Pubitemid 2098795)
43. Bougeard G, Brugieres L, Chompret A, et al.: Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. Oncogene 2003; 22: 840-846. (Pubitemid 36255819)
44. Eng C,: Will the real Cowden syndrome please stand up: Revised diagnostic criteria. J Med Genet 2000; 37: 828-830.
45. Hanssen AM, Fryns JP,: Cowden syndrome. J Med Genet 1995; 32: 117-119.
46. Nelen MR, Padberg GW, Peeters EA, et al.: Localization of the gene for Cowden disease to chromosome 10q 22-23. Nat Genet 1996; 13: 114-116. (Pubitemid 126528240)
47. Nelen MR, Kremer H, Konings IB, et al.: Novel PTEN mutations in patients with Cowden disease: Absence of clear genotype-phenotype correlations. Eur J Hum Genet 1999; 7: 267-273. (Pubitemid 29213732)
48. Brownstein MH, Wolf M, Bikowski JB,: Cowden's disease: A cutaneous marker of breast cancer. Cancer 1978; 41: 2393-2398. (Pubitemid 8375545)
49. Starink TM, van der Veen JP, Arwert F, et al.: The Cowden syndrome: A clinical and genetic study in 21 patients. Clin Genet 1986; 29: 222-233. (Pubitemid 16136974)
50. Schrager CA, Schneider D, Gruener AC, et al.: Clinical and pathological features of breast disease in Cowden's syndrome: An under recognized syndrome with an increased risk of breast cancer. Hum Pathol 1998; 29: 47-53. (Pubitemid 28049545)
51. Schrager CA, Schneider D, Gruener AC, et al.: Similarities of cutaneous and breast pathology in Cowden's syndrome. Exp Dermatol 1998; 7: 380-390. (Pubitemid 28539302)
52. Fackenthal JD, Marsh DJ, Richardson AL, et al.: Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet 2001; 38: 159-164. (Pubitemid 32250866)
53. Liaw D, Marsh DJ, Li J, et al.: Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997; 16: 64-67. (Pubitemid 27198157)
54. Marsh DJ, Coulon V, Lunetta KL, et al.: Mutation spectrum and genotype-phenotype analysis in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998; 7: 507-515. (Pubitemid 28120643)
55. Ginn-Pease ME, Eng C,: Increased nuclear phosphatase and tensin homologue deleted on chromosome 10 is associated with G0-G1 in MCF-7 cells. Cancer Res 2003; 63: 282-286. (Pubitemid 36152480)
56. Chung JH, Eng C,: Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis. Cancer Res 2005; 65: 8096-8100. (Pubitemid 41330571)
57. Shen WH, Balajee AS, Wang J, et al.: Essential role of PTEN in the maintenance of chromosome integrity. Cell 2007; 128: 157-170. (Pubitemid 46048887)
58. Campeau PM, Foulkes WD, Tischkowitz MD,: Hereditary breast cancer: New genetic developments, new therapeutic avenues. Hum Genet 2008; 124: 31-42.
59. Mills GB, Lu Y, Kohn EC,: Linking molecular therapeutics to molecular diagnostics: Inhibition of the FRAP/RAFT/TOR component of the PI3K pathway preferentially blocks PTEN mutant cells in vitro and in vivo. Proc Natl Acad Sci USA 2001; 98: 10031-10033. (Pubitemid 32802967)
60. Neshat MS, MellinghoV IK, Tran C, et al.: Enhanced sensitivity of PTEN-deWcient tumors to inhibition of FRAP/mTOR. Proc Natl Acad Sci USA 2001; 98: 10314-10319. (Pubitemid 32803017)
61. Podsypanina K, Lee RT, Politis C, et al.: An inhibitor of mTOR reduces neoplasia and normalizes p70/S6 kinase activity in Pten+/- mice. Proc Natl Acad Sci USA 2001; 98: 10320-10325. (Pubitemid 32803018)
62. Mosley JD, Poirier JT, Seachrist DD, et al.: Rapamycin inhibits multiple stages of c-Neu/ErbB2 induced tumor progression in a transgenic mouse model of HER2-positive breast cancer. Mol Cancer Ther 2007; 6: 2188-2197. (Pubitemid 47294747)
63. Gligorov J, Azria D, Namer M, et al.: Novel therapeutic strategies combining antihormonal and biological targeted therapies in breast cancer: Focus on clinical trials and perspectives. Crit Rev Oncol Hematol 2007; 64: 115-128. (Pubitemid 47496223)
64. Utsunomiya J, Gocho H, Miyanaga T, et al.: Peutz-Jeghers syndrome: Its natural course and management. Johns Hopkins Med J 1975; 136: 71.
65. Boardman LA, Thibodeau SN, Schaid DJ, et al.: Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 1998; 128: 896-899. (Pubitemid 28289483)
66. Lim W, Olschwang S, Keller JJ, et al.: Relative frequency and morphology of cancers in STK11 mutation carriers. Gastroenterology 2004; 126: 1788-1794. (Pubitemid 38736344)
67. Giardiello FM, Welsh SB, Hamilton SR, et al.: Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 1987; 316: 1511-1514. (Pubitemid 17076235)
68. Tomlinson IP, Houlston RS,: Peutz-Jeghers syndrome. J Med Genet 1997; 34: 1007-1011. (Pubitemid 27522107)
69. Collins SP, Reoma JL, Gamm DM, et al.: LKB1, a novel serine/threonine protein kinase and potential tumour suppressor, is phosphorylated by cAMP-dependent protein kinase (PKA) and prenylated in vivo. Biochem J 345: 673-680.
70. Karuman P, Gozani O, Odze RD, et al.: The Peutz-Jeghers gene product LKB1 is a mediator of p53-dependent cell death. Mol Cell 2001; 7: 1307-1319. (Pubitemid 32607363)
71. Wullschleger S, Loewith R, Hall MN,: TOR signaling in growth and metabolism. Cell 2006; 124: 471-484. (Pubitemid 43199434)
72. Katajisto P, Vallenius T, Vaahtomeri K, et al.: The LKB1 tumor suppressor kinase in human disease. Biochim Biophys Acta 2007; 1775: 63-75. (Pubitemid 44889272)
73. Burt R, Neklason DW,: Genetic testing for inherited colon cancer. Gastroenterology 2005; 128: 1696-1716. (Pubitemid 40692561)
74. Aretz S, Stienen D, Uhlhaas S, et al.: High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 2005; 26: 513-519. (Pubitemid 41780473)
75. Giardiello FM, Trimbath JD,: Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 2006; 4: 408-415.
76. Matsuoka S, Huang M, Elledge SJ,: Linkage of ATM to cell cycle regulation by the Chk2 protein kinase. Science 1998; 282: 1893-1897. (Pubitemid 28555269)
77. Lee JS, Collins KM, Brown AL, et al.: HCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response. Nature 2001; 404: 201-204.
78. Hollestelle A, Wasielewski M, Martens JW, et al.: Discovering moderate-risk breast cancer susceptibility genes. Curr Opin Genet Dev 2010; 20: 268-276.
79. Meijers-Heijboer H, van den Ouweland A, Klijn J, et al.: Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002; 31: 55-59.
80. Schmidt MK, Tollenaar RA, de Kemp S, et al.: Breast cancer survival and tumor characteristics in premenopausal women carrying the CHEK2*1100delC germline mutation. J Clin Oncol 2007; 25: 64.
81. Cybulski C, Huzarski T, Byrski T, et al.: Estrogen receptor status in CHEK2-positive breast cancers: Implications for chemoprevention. Clin Genet 2009; 75: 72-78.
82. Su Y, Swift M,: Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Ann Intern Med 2000; 133: 770-778.
83. Morrell D, Cromartie E, Swift M,: Mortality and cancer incidence in 263 patients with ataxia telangiectasia. J Natl Cancer Inst 1986; 77: 87.
84. Olsen JH, Hahnemann JM, Borresen-Dale AL, et al.: Cancer in patients with ataxia-telangiectasia and their relatives in the Nordic countries. J Natl Cancer Inst 2001; 93: 121.
85. Renwick A, Thompson D, Seal S, et al.: ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006; 38: 873.
86. Gatti R,: Ataxia-Telangiecasia. In:, Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle, WA: University of Washington; 1993-1999 [updated 2010 Mar 11].
87. Taniguchi T,: Fanconi Anemia. In:, Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle, WA: University of Washington; 1993-2002 [updated 2008 Mar 27].
88. Alter BP,: Cancer in Fanconi anemia, 1927-2001. Cancer 2003; 97: 425-440. (Pubitemid 36133810)
89. Saxon B,: Nathan and Oski's hematology of infancy and childhood. J Paediatr Child Health 2004; 40: 244.
90. Kutler DI, Auerbach AD,: Fanconi anemia in Ashkenazi Jews. Fam Cancer 2004; 3: 241-248.
91. Callen E, Casado JA, Tischkowitz MD, et al.: A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. Blood 2005; 105: 1946-1949. (Pubitemid 40731776)
92. Morgan NV, Essop F, Demuth I, et al.: A common Fanconi anemia mutation in black populations of sub-Saharan Africa. Blood 2005; 105: 3542-3544. (Pubitemid 40628198)